C57BL/6JCya-Smad6em1/Cya
Common Name
Smad6-KO
Product ID
S-KO-17052
Backgroud
C57BL/6JCya
Strain ID
KOCMP-17130-Smad6-B6J-VB
When using this mouse strain in a publication, please cite “Smad6-KO Mouse (Catalog S-KO-17052) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Basic Information
Strain Name
Smad6-KO
Strain ID
KOCMP-17130-Smad6-B6J-VB
Gene Name
Product ID
S-KO-17052
Gene Alias
Madh6, b2b390Clo
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
Chr 9
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Number
ENSMUST00000041029
NCBI RefSeq
NM_008542
Target Region
Exon 1
Size of Effective Region
~1.9 kb
Overview of Gene Research
Smad6 encodes an intracellular inhibitor of the bone morphogenetic protein (BMP) signalling pathway, which is crucial for regulating early embryonic development and tissue homeostasis [1,2,3].
SMAD6-deficiency has been linked to three human congenital conditions: congenital heart diseases, craniosynostosis, and radioulnar synostosis [1]. Rare heterozygous loss-of-function variants in SMAD6 increase the risk of these disorders, and even identical nucleotide changes can lead to different phenotypes without a clear genotype-phenotype correlation [1]. Homozygous SMAD6 variants have also been found in patients with craniosynostosis and radioulnar synostosis, expanding the phenotypic spectrum [3]. In addition, some rare pathogenic SMAD6 variants can activate the BMP signaling pathway through deamidation, revealing a new pathogenic mechanism [2]. SMAD6 is also frequently mutated in nonsyndromic radioulnar synostosis [4].
In summary, Smad6 is an important negative regulator of the BMP signalling pathway. Research on SMAD6-related genetic variants in humans has provided insights into its role in congenital heart diseases, craniosynostosis, and radioulnar synostosis, helping to understand the pathogenesis of these diseases and potentially improve molecular diagnosis and therapeutic strategies [1,2,3,4].
References:
1. Luyckx, Ilse, Verstraeten, Aline, Goumans, Marie-José, Loeys, Bart. 2022. SMAD6-deficiency in human genetic disorders. In NPJ genomic medicine, 7, 68. doi:10.1038/s41525-022-00338-5. https://pubmed.ncbi.nlm.nih.gov/36414630/
2. Li, Ling, Lu, Lei, Xiao, Ziqi, Wang, Weimin, Wang, Hongyan. 2024. Deamidation enables pathogenic SMAD6 variants to activate the BMP signaling pathway. In Science China. Life sciences, 67, 1915-1927. doi:10.1007/s11427-023-2532-5. https://pubmed.ncbi.nlm.nih.gov/38913236/
3. Luyckx, Ilse, Walton, Isaac Scott, Boeckx, Nele, Wilkie, Andrew O M, Loeys, Bart. 2024. Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis. In Journal of medical genetics, 61, 363-368. doi:10.1136/jmg-2023-109151. https://pubmed.ncbi.nlm.nih.gov/38290823/
4. Yang, Yongjia, Zheng, Yu, Li, Wangming, Zhu, Guanghui, Zhu, Yimin. 2019. SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis. In Genetics in medicine : official journal of the American College of Medical Genetics, 21, 2577-2585. doi:10.1038/s41436-019-0552-8. https://pubmed.ncbi.nlm.nih.gov/31138930/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen
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